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Am J Med Genet. 2001 Oct 1;103(2):163-5.

Case of Myhre syndrome with autism and peculiar skin histological findings.

Author information

1
Department of Pediatrics, Federico II University, Via S. Pansini 5, 80131 Naples, Italy.

Abstract

Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility. We report on a 14-year-old boy with clinical findings consistent with a diagnosis of Myhre syndrome, associated with autism and peculiar skin histological findings.

PMID:
11568925
[Indexed for MEDLINE]

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